A curated catalogue of human genomic structural variation




Variant Details

Variant: nssv16915927



Internal ID11347
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:85784121..85784140hg38UCSC Ensembl
chr2:86011244..86011263hg19UCSC Ensembl
Cytoband2p11.2
Allele length
AssemblyAllele length
hg38881
hg19881
Variant TypeCNV sva insertion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusS
Merged Variantsnsv5561874
Supporting Variants
Samples
Known GenesATOH8
MethodSequencing
Analysis
Platform
Comments
ReferenceByrska_Bishop_et_al_2022
Pubmed ID36055201
Accession Number(s)nssv16915927
Frequency
Sample Size3202
Observed Gain1
Observed Loss0
Observed Complex0
Frequency0.000156


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